ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)

dbSNP: rs373178770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520960 SCV000621195 pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing The Q63X variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q63X variant is not observed in large population cohorts (Lek et al., 2016).
3billion RCV002250650 SCV002521791 pathogenic DYRK1A-related intellectual disability syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with DYRK1A- related disorder (ClinVar ID: VCV000452388). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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